28,363 results match your criteria inheritance female

Population origin, maternal effects, and hydric conditions during incubation determine embryonic and offspring survival in a desert-dwelling lizard.

Oecologia 2021 May 8. Epub 2021 May 8.

Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.

While the effects of incubation environment on embryonic development and offspring traits have been extensively studied in oviparous vertebrates, studies into how genetic inheritance (population origin), maternal effects, and incubation environment interact to produce varying phenotypes, are rare. To elucidate the interactive role of those three factors during incubation in shaping offspring phenotypes through hydric conditions, we conducted a fully factorial experiment [arid and semiarid populations × maternal dry and wet treatments (MDT and MWT) × embryonic dry and wet treatments (EDT and EWT)] with a desert-dwelling lacertid lizard (Eremias argus). Female lizards in dry conditions produced larger clutch sizes but smaller eggs. Read More

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COVID-19 and the neonatal microbiome: will the pandemic cost infants their microbes?

Gut Microbes 2021 Jan-Dec;13(1):1-7

Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

Mortality and morbidity from SARS-CoV2 (COVID-19) infections in children remains low, including an exceedingly low rate of horizontal and vertical transmission. However, unforeseen complications to childhood health have emerged secondary to the pandemic. Few studies to date have examined unintended complications of the pandemic in newborns and infants. Read More

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Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans.

Bol Med Hosp Infant Mex 2021 May 3. Epub 2021 May 3.

Departamento de Genética, Unidad Médica de Alta Especialidad Hospital de Pediatría Dr. Silvestre Frenk Freund, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), Mexico City, Mexico.

Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually secondary to trauma. The ossification foci generate pain, joint ankyloses, and restricted movement. Congenital shortening and medial deviation first metatarsal of the foot is a distinctive feature. Read More

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Juvenile exposure to acute traumatic stress leads to long-lasting alterations in grey matter myelination in adult female but not male rats.

Neurobiol Stress 2021 May 1;14:100319. Epub 2021 Apr 1.

University of California, Berkeley, Helen Wills Neuroscience Institute, United States.

Stress early in life can have a major impact on brain development, and there is increasing evidence that childhood stress confers vulnerability for later developing psychiatric disorders. In particular, during peri-adolescence, brain regions crucial for emotional regulation, such as the prefrontal cortex (PFC), amygdala (AMY) and hippocampus (HPC), are still developing and are highly sensitive to stress. Changes in myelin levels have been implicated in mental illnesses and stress effects on myelin and oligodendrocytes (OLs) are beginning to be explored as a novel and underappreciated mechanism underlying psychopathologies. Read More

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Natural History as a Family Enterprise: Kinship and Inheritance in Eighteenth-Century Science*.

Alix Cooper

Ber Wiss 2021 Apr 30. Epub 2021 Apr 30.

Department of History Stony Brook University.

As recent research has shown, many of the activities of early modern (including eighteenth-century) naturalists were carried out in the household. This article investigates the ways in which family members in particular, both male and female, ended up engaging in kinds of labor which furthered the pursuit of natural history in the eighteenth century. Examining evidence from various different parts of Europe and its colonies, the article argues that natural history can be seen to have often been what might be termed a family enterprise, one to which many different family members might contribute in ways shaped by concerns of kinship and inheritance. Read More

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Epigenetic transgenerational inheritance, Gametogenesis and Germline Development.

Biol Reprod 2021 Apr 30. Epub 2021 Apr 30.

Center for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.

One of the most important developing cell types in any biological system is the gamete (sperm and egg). The transmission of phenotypes and optimally adapted physiology to subsequent generations is in large part controlled by gametogenesis. In contrast to genetics, the environment actively regulates epigenetics to impact the physiology and phenotype of cellular and biological systems. Read More

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Dnmt2-null sperm block maternal transmission of a paramutant phenotype.

Biol Reprod 2021 Apr 30. Epub 2021 Apr 30.

Department of Physiology and Cell Biology, University of Nevada, Reno School of Medicine, Reno, NV 89557, USA.

Previous studies have shown that Dnmt2-null sperm block the paternal transmission (through sperm) of certain acquired traits, e.g., high fat diet-induced metabolic disorders or white tails due to a Kit paramutation. Read More

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Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Mar;46(3):234-239

Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.

Objectives: Systemic lupus erythematosus (SLE) is a kind of autoimmune inflammatory connective tissue disease which seriously endangers human health. Genetic factors play a key role in the pathogenesis of SLE. This study aims to investigate a novel phospholipase D2 (PLD2) mutation associated with familial SLE, and further explore the underlying mechanism of the mutation in SLE. Read More

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Dosage Compensation in Females with X-Linked Metabolic Disorders.

Int J Mol Sci 2021 Apr 26;22(9). Epub 2021 Apr 26.

Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland.

Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization) is an epigenetic mechanism that balances the expression of genes on heteromorphic sex chromosomes. Many studies in the literature have suggested a profound influence of this phenomenon on the manifestation of X-linked disorders in females. Read More

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Transgenerational Effects of Di(2-Ethylhexyl) Phthalate on Anogenital Distance, Sperm Functions and DNA Methylation in Rat Offspring.

Int J Mol Sci 2021 Apr 16;22(8). Epub 2021 Apr 16.

Environmental and Occupational Medicine, National Taiwan University (NTU) College of Medicine and NTU Hospital, Taipei 100229, Taiwan.

Di(2-ethylhexyl) phthalate (DEHP) is widely used as a plasticizer in the manufacture of polyvinylchloride plastics and has been associated with concerns regarding male reproductive toxicity. In this study, we hypothesized that maternal exposure to DEHP induces transgenerational inheritance of adult-onset adverse reproductive outcomes through the male germline in the F1, F2, and F3 generations of male offspring. Pregnant rats were treated with 5 or 500 mg of DEHP/kg/day through gavage from gestation day 0 to birth. Read More

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Dysregulated Immunological Functionome and Dysfunctional Metabolic Pathway Recognized for the Pathogenesis of Borderline Ovarian Tumors by Integrative Polygenic Analytics.

Int J Mol Sci 2021 Apr 15;22(8). Epub 2021 Apr 15.

Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan.

The pathogenesis and molecular mechanisms of ovarian low malignant potential (LMP) tumors or borderline ovarian tumors (BOTs) have not been fully elucidated to date. Surgery remains the cornerstone of treatment for this disease, and diagnosis is mainly made by histopathology to date. However, there is no integrated analysis investigating the tumorigenesis of BOTs with open experimental data. Read More

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Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.

Int J Mol Sci 2021 Apr 6;22(7). Epub 2021 Apr 6.

Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Read More

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Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Am J Med Genet A 2021 Apr 29. Epub 2021 Apr 29.

Department of Medical Genetics, Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey.

Filippi syndrome (MIM #272440), one of the craniodigital syndromes, is a rare genetic entity with autosomal recessive inheritance and characterized by pre- and postnatal growth retardation, microcephaly, distinctive facial appearance, developmental delay/intellectual disability, and variable syndactylies of the fingers and toes. In this report, a further female patient of Filippi syndrome who additionally had a unilateral congenital talipes equinovarus (CTEV), a feature not previously recorded, is described. Genetic testing revealed a novel homozygous frameshift pathogenic variant (c. Read More

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Cold scissors versus electrosurgery for hysteroscopic adhesiolysis: A meta-analysis.

Medicine (Baltimore) 2021 Apr;100(17):e25676

Department of TCM Gynecology, Hangzhou Hospital of Traditional Chinese Medicine Affiliated to Zhejiang Chinese Medical University.

Background: Intrauterine adhesion seriously affects reproductive health in women. Hysteroscopic adhesiolysis using cold scissors or electrosurgery is the main treatment, although there is no consensus on the preferable method. This review aimed to compare the efficacy and safety of these methods for treating moderate to severe intrauterine adhesion. Read More

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Sirenomelia: two case reports.

J Med Case Rep 2021 Apr 26;15(1):217. Epub 2021 Apr 26.

Medical Genetics Center of Genome, No 54319, Genome Building, Mohtasham St., Isfahan, Iran.

Background: Sirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000-70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. Read More

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[DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review].

Zhonghua Er Ke Za Zhi 2021 May;59(5):400-406

Department of Pediatrics, Hunan Intellectual and Developmental Disabilities Research Center, Xiangya Hospital of Central South University, Changsha 410008, China.

To investigate the clinical characteristics of R403C variant in DNM1L gene caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1). The clinical data of three patients, who carried R403C variant in the DNM1L gene, diagnosed at Xiangya Hospital from February 2018 to February 2020 were retrospectively summarized. Literature reviewing was performed by taking "DNM1L" or "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" as keywords for searching in online Mendelian inheritance in man (OMIM), PubMed, China national knowledge infrastructure (CNKI), and Wanfang data knowledge service platform up to July 2020. Read More

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Persistent Opioid Use After Ophthalmic Surgery in Opioid-Naive Patients and Associated Risk Factors.

Ophthalmology 2021 Apr 22. Epub 2021 Apr 22.

W. K. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI. Electronic address:

Purpose: To determine the rate and risk factors for new persistent opioid use after ophthalmic surgery in the United States (US).

Design: Retrospective claims-based cohort analysis.

Participants: Opioid-naive patients aged 13 years and older who underwent incisional ophthalmic surgery between January 1, 2012 to June 30, 2017 in Optum's de-identified Clinformatics® DataMart Database. Read More

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Selfish chromosomal drive shapes recent centromeric histone evolution in monkeyflowers.

PLoS Genet 2021 04 22;17(4):e1009418. Epub 2021 Apr 22.

Division of Biological Sciences, University of Montana, Missoula Montana, United States of America.

Centromeres are essential mediators of chromosomal segregation, but both centromeric DNA sequences and associated kinetochore proteins are paradoxically diverse across species. The selfish centromere model explains rapid evolution by both components via an arms-race scenario: centromeric DNA variants drive by distorting chromosomal transmission in female meiosis and attendant fitness costs select on interacting proteins to restore Mendelian inheritance. Although it is clear than centromeres can drive and that drive often carries costs, female meiotic drive has not been directly linked to selection on kinetochore proteins in any natural system. Read More

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Genetics of extra-early-maturing yellow and orange quality protein maize inbreds and derived hybrids under low soil nitrogen and infestation.

Crop Sci 2021 Mar-Apr;61(2):1052-1072. Epub 2020 Dec 22.

West Africa Centre for Crop Improvement Univ. of Ghana PMB 30 Legon Ghana.

The development and commercialization of extra-early quality protein maize (QPM)-provitamin A (PVA) hybrids that are tolerant of low soil N (LN) and resistant are essential for addressing the food insecurity and undernourishment challenges currently faced by sub-Saharan Africa (SSA). This study was designed (a) to determine the genetic effects regulating grain yield (GY) and important secondary traits of extra-early yellow and orange QPM-PVA inbred lines under LN, infested, and high-N (HN) conditions, (b) to investigate whether maternal genes influenced the inheritance of GY and other secondary traits, (c) to assess the GY and stability of the hybrids across the three management conditions, and (d) to examine the relationship between single nucleotide polymorphism (SNP) marker-based genetic distances and GY. Twenty-four inbred lines were used to produce ninety-six single cross hybrids using the North Carolina Design II. Read More

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December 2020

Boundaries and hybridization in a secondary contact zone between freshwater mussel species (Family:Unionidae).

Heredity (Edinb) 2021 Apr 21. Epub 2021 Apr 21.

Graduate Program in Evolution, Ecology and Behavior, University at Buffalo, Buffalo, NY, USA.

Correct species identification and delineation are crucial for effective conservation and management. However, species delineation can be problematic in the presence of morphological ambiguities due to phenotypic plasticity, convergence, and/or interspecific hybridization. Here, we investigated the degree of hybridization between two closely related freshwater mussel species [Bivalvia: Unionidae; Lampsilis siliquoidea (Barnes) and L. Read More

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Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis.

Nat Commun 2021 04 20;12(1):2337. Epub 2021 Apr 20.

Institute of Science and Technology Austria, Klosterneuburg, Austria.

While recent advancements in computation and modelling have improved the analysis of complex traits, our understanding of the genetic basis of the time at symptom onset remains limited. Here, we develop a Bayesian approach (BayesW) that provides probabilistic inference of the genetic architecture of age-at-onset phenotypes in a sampling scheme that facilitates biobank-scale time-to-event analyses. We show in extensive simulation work the benefits BayesW provides in terms of number of discoveries, model performance and genomic prediction. Read More

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Parent-of-origin effects, allele-specific expression, genomic imprinting and paternal manipulation in social insects.

Philos Trans R Soc Lond B Biol Sci 2021 Jun 19;376(1826):20200425. Epub 2021 Apr 19.

BEE Lab, School of Life and Environmental Sciences A12, University of Sydney, New South Wales 2006, Australia.

Haplo-diploidy and the relatedness asymmetries it generates mean that social insects are prime candidates for the evolution of genomic imprinting. In single-mating social insect species, some genes may be selected to evolve genomic mechanisms that enhance reproduction by workers when they are inherited from a female. This situation reverses in multiple mating species, where genes inherited from fathers can be under selection to enhance the reproductive success of daughters. Read More

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Microinjection of Corn Planthopper, Peregrinus maidis, Embryos for CRISPR/Cas9 Genome Editing.

J Vis Exp 2021 03 26(169). Epub 2021 Mar 26.

Department of Entomology and Plant Pathology, North Carolina State University;

The corn planthopper, Peregrinus maidis, is a pest of maize and a vector of several maize viruses. Previously published methods describe the triggering of RNA interference (RNAi) in P. maidis through microinjection of double-stranded RNAs (dsRNAs) into nymphs and adults. Read More

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Ancestral plastics exposure induces transgenerational disease-specific sperm epigenome-wide association biomarkers.

Environ Epigenet 2021 20;7(1):dvaa023. Epub 2021 Mar 20.

School of Biological Sciences, Center for Reproductive Biology, Washington State University, Pullman, WA, USA.

Plastic-derived compounds are one of the most frequent daily worldwide exposures. Previously a mixture of plastic-derived toxicants composed of bisphenol A, bis(2-ethylhexyl) phthalate, and dibutyl phthalate at low-dose exposures of a gestating female rats was found to promote the epigenetic transgenerational inheritance of disease to the offspring (F1 generation), grand-offspring (F2 generation), and great-grand-offspring (F3 generation). Epigenetic analysis of the male sperm was found to result in differential DNA methylation regions (DMRs) in the transgenerational F3 generation male sperm. Read More

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Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Orphanet J Rare Dis 2021 Apr 9;16(1):167. Epub 2021 Apr 9.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127, Bonn, Germany.

Background: The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal-ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein.

Main Body: In the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that CS may underlie an additional mode(s) of inheritance. Read More

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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

BMC Ophthalmol 2021 Apr 9;21(1):168. Epub 2021 Apr 9.

Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Background: We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.

Case Presentation: A 43-year-old female with bull's eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. Read More

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A novel variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1.

J Clin Res Pediatr Endocrinol 2021 Apr 8. Epub 2021 Apr 8.

Pediatric Endocrinologist at Pediatric endocrine department,. Obesity, Endocrine, and Metabolism Center, , King Fahad Medical City, Riyadh, Saudi Arabia.

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium levels. The abnormality results from mutations in the gene-encoding subunits of the epithelial sodium channel (ENaC). Patients with PHA1 present in infancy as being in adrenal crisis. Read More

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Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos.

Nat Genet 2021 04 5;53(4):551-563. Epub 2021 Apr 5.

Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.

Polycomb repressive complexes 1 and 2 (PRC1/2) maintain transcriptional silencing of developmental genes largely by catalyzing the formation of mono-ubiquitinated histone H2A at lysine 119 (H2AK119ub1) and trimethylated histone H3 at lysine 27 (H3K27me3), respectively. How Polycomb domains are reprogrammed during mammalian preimplantation development remains largely unclear. Here we show that, although H2AK119ub1 and H3K27me3 are highly colocalized in gametes, they undergo differential reprogramming dynamics following fertilization. Read More

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H2AK119ub1 guides maternal inheritance and zygotic deposition of H3K27me3 in mouse embryos.

Nat Genet 2021 04 5;53(4):539-550. Epub 2021 Apr 5.

YCI Laboratory for Metabolic Epigenetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.

Parental epigenomes are established during gametogenesis. While they are largely reset after fertilization, broad domains of Polycomb repressive complex 2 (PRC2)-mediated formation of lysine 27-trimethylated histone H3 (H3K27me3) are inherited from oocytes in mice. How maternal H3K27me3 is established and inherited by embryos remains elusive. Read More

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Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.

J Pediatr Endocrinol Metab 2021 Apr 6. Epub 2021 Apr 6.

Department of Paediatric Endocrinology, Faculty of Medicine, Hacettepe University, Sıhhiye/Ankara, Turkey.

Objectives: Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism (HH) cases with no chromosomal anomalies. The aim of the present study is to investigate the underlying molecular genetic etiology and the genotype-phenotype relationship of a series of patients with Hh and HH. Read More

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